research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
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research Epidermal abnormalities and increased malignancy of skin tumors in human epidermal keratin 8‐expressing transgenic mice
Mice with human skin protein K8 had more skin problems and cancer.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development
Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
research Clinical Snippets
New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
research 186 Dissecting the role of the common neurotrophin receptor CD271 in the skin: generation and characterization of a novel mouse model with keratinocyte-specific conditional deletion
Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
research 0866 Role of transcriptional elongation in dermal fat development
Nelfb is essential for dermal fat development and survival.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Exploring in vitro markers of potency of extracellular vesicles from cardiosphere-derived cells in the treatment of cardiac ageing
Potent extracellular vesicles from cardiosphere-derived cells can improve heart health and other functions in aging.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Cashmere growth control in Liaoning cashmere goat by ovarian carcinoma immunoreactive antigen-like protein 2 and decorin genes
OCIAD2 and DCN genes affect hair growth in goats by having opposite effects on a growth signaling pathway and inhibiting each other.
research Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network
CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
research Epidermal growth factor delays the development of the epidermis and hair follicles of mice during growth of the first coat
Epidermal growth factor delays skin and hair development in mice.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Effect of Hataedock Treatment on Epidermal Structure Maintenance through Intervention in the Endocannabinoid System
Hataedock treatment improved skin health and reduced atopic dermatitis symptoms by enhancing the skin barrier and reducing inflammation.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
research 583 RNA sequencing of immortalised balding and non balding DPCs identifies potential balding gene signatures
The research found specific genes that are more active in balding cells, which could be causing hair loss.
research Identification of differentially expressed genes in actinic keratosis samples treated with ingenol mebutate gel
Ingenol mebutate gel changes gene expression related to skin development and immune response in actinic keratosis.
research 136 Physiological function of Krox20 (Egr2) in epithelial stem cells
Krox20 is crucial for hair growth and maintaining skin stem cells.
research Co‐regulatory mechanisms and potential markers of oxidative stress‐related genes in vitiligo and alopecia areata
KLB and EIF3C genes are key for early diagnosis of vitiligo and alopecia areata.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research C/EBPα and C/EBPβ Are Required for Sebocyte Differentiation and Stratified Squamous Differentiation in Adult Mouse Skin
C/EBPalpha and C/EBPbeta are crucial for normal skin and oil gland cell development in adult mice.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.